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Progress on early diagnosing Alzheimer’s disease

Frontiers of Medicine 2024年第3期18卷 446-464页

作者： Yixin Chen Murad Al-Nusaif Song Li Xiang Tan Huijia Yang Huaibin Cai Weidong Le Liaoning Provincial Key Laboratory for Research on the Pathogenic Mechanisms of Neurological Diseases The First Affiliated Hospital of Dalian Medical UniversityDalian116021China Transgenic Section Laboratory of NeurogeneticsNational Institute on AgingNational Institutes of HealthBethesdaMD20892USA Institute of neurology Sichuan Provincial People’s HospitalUniversity of Electronic Science and Technology of ChinaChinese Academy of Sciences Sichuan Translational Medicine Research HospitalChengdu610072China

Alzheimer’s disease(AD)is a progressive neurodegenerative disorder that affects both cognition and non-cognition *** disease follows a continuum,starting with preclinical stages,progressing to mild cognitive and behavioral impairment,ultimately leading to *** detection of AD is crucial for better diagnosis and more effective ***,the current AD diagnostic tests of biomarkers using cerebrospinal fluid and/or brain imaging are invasive or expensive,and mostly are still not able to detect early disease ***,there is an urgent need to develop new diagnostic techniques with higher sensitivity and specificity during the preclinical stages of *** non-cognitive manifestations,including behavioral abnormalities,sleep disturbances,sensory dysfunctions,and physical changes,have been observed in the preclinical AD stage before occurrence of notable cognitive *** research advances have identified several biofluid biomarkers as early indicators of *** review focuses on these non-cognitive changes and newly discovered biomarkers in AD,specifically addressing the preclinical stages of the ***,it is of importance to explore the potential for developing a predictive system or network to forecast disease onset and progression at the early stage of AD.

关键词： Alzheimer’s disease early diagnosis non-cognitive symptoms biomarkers

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Recurrent Transient Ischemic Attacks Revealing Cerebral Amyloid Angiopathy: A Comprehensive Case

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World Journal of Neuroscience 2024年第1期14卷 33-36页

作者： Kenza Khelfaoui Tredano Houyam Tibar Kaoutar El Alaoui Taoussi Wafae Regragui Abdeljalil El Quessar Ali Benomar neurology and Interventional Neuroradiology Department Cheikh Zaied International Hospital International University Abulcasis of Health Sciences Rabat Morocco neurology and neurogenetics Department Specialties Hospital Ibn Sina University Hospital Mohammed 5 University Rabat Morocco

This case report investigates the manifestation of cerebral amyloid angiopathy (CAA) through recurrent Transient Ischemic Attacks (TIAs) in an 82-year-old patient. Despite initial diagnostic complexities, cerebral angiography-MRI revealed features indicative of CAA. Symptomatic treatment resulted in improvement, but the patient later developed a fatal hematoma. The discussion navigates the intricate therapeutic landscape of repetitive TIAs in the elderly with cardiovascular risk factors, emphasizing the pivotal role of cerebral MRI and meticulous bleeding risk management. The conclusion stresses the importance of incorporating SWI sequences, specifically when suspecting a cardioembolic TIA, as a diagnostic measure to explore and exclude CAA in the differential diagnosis. This case report provides valuable insights into these challenges, highlighting the need to consider CAA in relevant cases.

关键词： Cerebral Amyloid Angiopathy Transient Ischemic Attacks Recurrent Hemiparesis Susceptibility-Weighted Imaging Cardioembolic Origin Bleeding Risk Management Differential Diagnosis

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MPDZ variants associated with epilepsies and/or febrile seizures and the individualized genotype-phenotype correlation

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Genes & Diseases 2024年第4期11卷 124-127页

作者： Junxia Luo Yun Li Yong Lv Xin Li Bing Qin Chuanfang Cheng Xiaorong Liu Weiping Liao Jie Wang Zaifen Gao Department of Epilepsy Center Children's Hospital Affiliated to Shandong UniversityJinanShandong 250022China Department of Epilepsy Center Jinan Children's HospitalJinanShandong 250022China Department of Brain Function and Neuroelectrophysiology The Affiliated Nanhua HospitalHengyang Medical SchoolUniversity of South ChinaHengyangHunan 421001China Department of Pediatrics The First Affiliated Hospital of University of Science and Technology of China(Anhui Provincial Hospital)HefeiAnhui 230001China Department of Pediatrics The Second HospitalCheeloo College of MedicineShandong UniversityJinanShandong 250033China Epilepsy Center and Department of Neurosurgery The First Affliated Hospital of Jinan UniversityGuangzhouGuangdong 510630China Department of Cardiology The Second Afiliated Hospital of Guangzhou Medical UniversityGuangzhouGuangdong 510260China Institute of Neuroscience and Department of neurology of the Second Affiliated Hospital of Guangzhou Medical University GuangzhouGuangdong 510260China Key Laboratory of neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China GuangzhouGuangdong 510260China

The multiple PDZ domain crumbs cell polarity complex component gene(MPDZ;MIM:603785),is highly expressed in the brain across the whole *** encodes the multiple PDZ domain protein,which is a member of the NMDAR signaling complex that may play a role in the control of AMPAR potentiation and synaptic plasticity in excitatory synapses."Previously,MPDZ variants have been demonstrated to be associated with autosomal recessive congenital hydrocephalus-2(HYC2;MIM:615219)which is commonly complicated by brain abnormalities and developmental *** were reported in only one *** association between MPDz and epilepsy requires clarification.

关键词： epilepsy febrile congenital

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Ion Channel Genes and Epilepsy:Functional Alteration,Pathogenic Potential,and Mechanism of Epilepsy

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Neuroscience Bulletin 2017年第4期33卷 455-477页

作者： Feng Wei Li-Min Yan Tao Su Na He Zhi-Jian Lin Jie Wang Yi-Wu Shi Yong-Hong Yi Wei-Ping Liao Institute of Neuroscience Department of Neurology of The Second Affiliated Hospital of Guangzhou Medical UniversityKey Laboratory of Neurogenetics and Channelopathies of Guangdong Province and Ministry of Education of ChinaGuangzhou Medical University Department of neurology Guangdong Second Provincial General Hospital

Ion channels are crucial in the generation and modulation of excitability in the nervous system and have been implicated in human epilepsy. Forty-one epilepsyassociated ion channel genes and their mutations are systematically reviewed. In this paper, we analyzed the genotypes, functional alterations（funotypes）, and phenotypes of these mutations. Eleven genes featured loss-offunction mutations and six had gain-of-function *** genes displayed diversified funotypes, among which a distinct funotype-phenotype correlation was found in SCN1A. These data suggest that the funotype is an essential consideration in evaluating the pathogenicity of mutations and a distinct funotype or funotype-phenotype correlation helps to define the pathogenic potential of a gene.

关键词： Epilepsy Ion channel gene Epilepsy gene Genetics Gene function Pathogenic mechanism

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Individuals with and without normal tension glaucoma exhibit comparable performance on tests of cognitive function

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International Journal of Ophthalmology(English edition) 2021年第11期14卷 1721-1728页

作者： Qi N.Cui David Green Mohit Jethi Todd Driver Travis C.Porco Jane Kuo Shan C.Lin Robert L.Stamper Ying Han Cynthia S.Chiu Saras Ramanathan Michael E.Ward Katherine Possin Yvonne Ou Department of Ophthalmology University of California San Francisco University of Pennsylvania Francis I.Proctor Foundation University of California San Francisco Glaucoma Center of San Francisco Department of neurology University of California San Francisco neurogenetics Branch National Institute of Neurological Disorders and StrokeNational Institutes of Health

AIM:To evaluate aspects of cognition impacted by individuals with and without normal tension ***:Fifty normal tension glaucoma(NTG)and 50 control patients≥50 y of age were recruited from the UCSF Department of *** data and glaucoma parameters were extracted from electronic medical records for both *** of executive function[Executive Abilities:Measures and Instruments for Neurobehavioral Evaluation and Research(EXAMINER)]and learning and memory[California Verbal Learning Test–Second Edition(CVLT-II)]were administered to both NTG and ***,handedness,best-corrected visual acuity,maximum intraocular pressure,optic nerve cup-todisc ratio,visual field and optic nerve optical coherence tomography parameters,and a measure of general health(Charlson Comorbidity Index)were compared between NTG and controls as well as within NTG *** linear regression was used to compare group performances on the EXAMINER battery and CVLT-II while controlling for age,sex,and years of ***:NTG and controls were comparable with respect to age,sex,race,education,handedness,and the Charlson Comorbidity Index(P>0.05 for all).Performance on the EXAMINER composite score and the CVLT-II did not differ between NTG and controls(P>0.05 for both).CONCLUSION:This is the first prospective study in which the cognitive function of subject with NTG were evaluated using a comprehensive,computerized neurocognitive *** with NTG do not perform worse than unaffected controls on tests of executive function,learning,and memor *** do not suppor t the hypothesis that individuals with NTG are at higher risk for cognitive dysfunction and/or dementia.

关键词： low tension glaucoma dementia mild cognitive impairment neurodegeneration memory and executive function

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Circadian rhythm dysfunction and psychopathology in the offspring of parents with bipolar disorder:a highrisk study in the Chinese population

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General Psychiatry 2024年第3期37卷 388-400页

作者： Binbin Lei Hongliang Feng Lulu Yang Jing Wang Jie Chen Weidong Song Chao Jiang Kun Zhang Qunfeng Wang Jessie Chi Ching Tsang Ngan Yin Chan Yaping Liu Joey W.Y.Chan Jiyang Pan Bin Zhang Tao Li Kathleen Ries Merikangas Jihui Zhang Yun Kwok Wing Guangdong Cardiovascular Institute Guangdong Provincial People's HospitalGuangdong Academy of Medical SciencesGuangzhouGuangdongChina Guangdong Mental Health Center Guangdong Provincial People's Hospital(Guangdong Academy of Medical Sciences)Southern Medical UniversityGuangzhouGuangdongChina Li Chiu Kong Family Sleep Assessment Unit Department of PsychiatryFaculty of MedicineThe Chinese University of Hong KongHong KongChina Center for Sleep and Circadian Medicine The Affiliated Brain Hospital of Guangzhou Medical UniversityGuangzhouGuangdongChina Department of Psychiatry Faculty of MedicineThe Chinese University of Hong KongNew TerritoriesHong KongChina Key Laboratory of neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China Guangzhou Medical UniversityGuangzhouGuangdongChina Shenzhen Nanshan Center for Chronic Diseases Control(Shenzhen Nanshan Mental Health Center) ShenzhenChina Department of Clinical Psychology Shenzhen Fuyong People's HospitalShenzhenChina Department of Mental Illness Prevention and Treatment Shenzhen Longgang Center for Chronic Diseases ControlShenzhenChina Department of neurology Zhongnan Hospital of Wuhan UniversityWuhanHubeiChina Sleep Medical Center The First Affiliated Hospital of Jinan UniversityGuangzhouGuangdongChina Department of Psychiatry Nanfang HospitalSouthern Medical UniversityGuangdong-Hong Kong-Macao Greater Bay Area Center for Brain Science and Brain-Inspired IntelligenceGuangzhouGuangdongChina Department of Neurobiology Affiliated Mental Health Center&Hangzhou Seventh People's HospitalZhejiang University School of MedicineHangzhouZhejiangChina Genetic Epidemiology Research Branch Intramural Research ProgramNational Institute of Mental HealthBethesdaMarylandUSA

Background Understanding the evolution of circadian rhythm dysfunction and psychopathology in the high-risk population has important implications for the prevention of bipolar ***,some of the previous studies on the emergence of psychopathologies and circadian dysfunction among high-risk populations were inconsistent and *** To examine the prevalence rates of sleep and circadian dysfunctions,mental disorders and their symptoms in the offspring of parents with(O-BD)and without bipolar disorder(O-control).Methods The study included 191 O-BD and 202 O-control subjects aged 6-21 years from the Greater Bay Area,*** diagnoses and symptoms of sleep/circadian rhythm and mental disorders were assessed by the Diagnostic Interview for Sleep Patterns and Disorders,and the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version,*** estimating equations and shared frailty proportional hazards models of survival analysis were applied to compare the outcomes in the *** Adjusting for age,sex and region of recruitment,there was a significantly higher risk of delayed sleep phase symptoms(9.55%vs 2.58%,adjusted OR:4.04)in O-BD than in O-control.O-BD had a nearly fivefold higher risk of mood disorders(11.70%vs 3.47%,adjusted OR:4.68)and social anxiety(6.28%vs 1.49%,adjusted OR:4.70),a fourfold higher risk of depressive disorders(11.17%vs 3.47%,adjusted OR:3.99)and a threefold higher risk of mood symptoms(20.74%vs 10.40%,adjusted OR:2.59)than *** analysis revealed that O-BD children(aged under 12 years)had a nearly 2-fold higher risk of any mental and behavioural symptoms than O-control,while there was a nearly 4-fold higher risk of delayed sleep phase symptoms,a 7.5-fold higher risk of social anxiety and a 3-fold higher risk of mood symptoms in O-BD adolescents(aged 12 years and over).Conclusions There was an increase in delayed sleep phase symptoms in O-BD

关键词： prevention dysfunction bipolar

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A Novel Fluorescence Probe 9-(4-(1,2-diamine)benzeneN^1-phenyl)acridine for Nitric Oxide Determination

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Journal of Wuhan University of Technology(Materials Science) 2014年第4期29卷 848-853页

作者：丁莉芸袁芳 HUANG Lanfen HUANG Jun LIU Xiaofang 梁兵 National Engineering Laboratory for Fiber Optic Sensing Technology Wuhan University of Technology Department of Health Qilu Hospital Shandong University Key Laboratory of neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China Institute of Neuroscience and the Second Affiliated Hospital of Guangzhou Medical University School of Chemical Engineering Wuhan University of Technology Department of neurology Qilu Hospital Shandong University

A novel fluorescent probe 9-（4-（1,2-diamine）benzene-N1-phenyl）acridine（DABPA） was synthesized for the detection of nitric oxide（NO） and characterized by IR, 1H-NMR and EI-MS spectroscopy. Based on a photoelectron transfer mechanism, the fl uorescence intensities of DABPA were investigated with the different concentrations of NO. Under the optimal experimental conditions, the fl uorescence intensity of DABPA had a good linear relationship（R2=0.9977） with NO concentration in the range from 1×10-7 to 1.5×10-6 mol/L with a detection limit of 1×10-8 mol/L. The cytotoxicity induced by DABPA was evaluated by the MTT（3-（4,5-dimethylthiazol-2-yl）-2,5diphenyl tetrazolium bromide） assay for biological application. Furthermore, the probe DABPA had also been successfully applied to real-time image NO produced in PC12 cells in the presence of L-arginine.

关键词： nitric oxide fluorescent probe 9-(4-(1 2-diamine)benzene-N1-phenyl)acridine

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Association Study of Two Polymorphisms in Vitamin D Pathway with Multiple Sclerosis in the Moroccan Population

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World Journal of Neuroscience 2017年第4期7卷 363-375页

作者： Asmae Skalli El Hachmia Ait Ben Haddou Rachid Tazi-Ahnini Ghislain Armel Mpandzou Houyam Tibar Naima Bouslam Ali Benomar Khadija Hajjout Mohamed Yahyaoui Elmostafa El Fahime Ahmed Bouhouche Research Team in neurology and neurogenetics Medical School and Pharmacy Mohammed V University Rabat Morocco Department of neurology and neurogenetics Specialties Hospital Rabat Morocco Laboratory of Biotechnology Medical School and Pharmacy Mohammed V University Rabat Morocco National Blood Transfusion Center Rabat Morocco Assistance Units for Scientific and Technical Research Rabat Morocco

Background: Hypovitaminosis D is reported through the literature to be involved in autoimmune diseases such as multiple sclerosis (MS). In the last decade, numerous studies have investigated the association of single nucleotide polymorphisms (SNPs) with MS, including rs2248359 (CYP24A1) and rs703842 (CYP27B1) that are involved in vitamin D metabolic pathway. However, results were conflicting, probably due to ethnic differences between the studied populations. In this context, the present study aimed to analyze the association between these two SNPs and MS within the Moroccan population. Methods: rs2248359 and rs703842 were genotyped in 113 patients and 146 healthy controls. To assess their association with the disease risk, we compared the genotypic and allelic frequencies between the study groups. We also explored their possible influence on certain clinical features (age at onset, type, disability status and severity score) and with vitamin D3 serum level (DSL) by comparing mean values of these variables between the different genotypes. Results: No statistically significant differences in the distribution of both SNPs were found between patients and controls. A trend has emerged concerning the minor G allele of rs703842 which appears to have a protective effect on developing MS, but this result remained slightly below significance. Also, the two polymorphisms had no impact on the clinical features tested and the DSL. Conclusion: There is no convincing evidence that rs2248359 and rs703842 are associated with MS risk, its clinical features or vitamin D level in Moroccans. Further larger investigations are needed to confirm these findings.

关键词： Multiple Sclerosis Risk rs2248359 rs703842 Clinical Features Serum 25(OH)D3 Level

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Recommendations for the diagnosis and treatment of paroxysmal kinesigemc dyskinesia: an expert consensus in China

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Translational Neurodegeneration 2021年第1期10卷 67-76页

作者： Li Cao Xiaojun Huang Ning Wang Zhiying Wu Cheng Zhang Weihong Gu Shuyan Cong Jianhua Ma Ling Wei Yanchun Deng Qi Fang Qi Niu Jin Wang Zhaoxia Wang You Yin Jinyong Tian Shufen Tian Hongyan Bi Hong Jiang Xiaorong Liu Yang Lu Meizhen Sun Jianjun Wu Erhe Xu Tao Chen Tao Chen Xu Chen Wei Li Shujian Li Qinghua Li Xiaonan Song Ying Tang Ping Yang Yun Yang Min Zhang Xiong Zhang Yuhu Zhang Ruxu Zhang Yi Ouyang Jintai Yu Quanzhong Hu Qing Ke Yuanrong Yao Zhe Zhao Xiuhe Zhao Guohua Zhao Furu Liang Nan Cheng Jianhong Han Rong Peng Shengdi Chen Beisha Tang Department of neurology Ruijin Hospital Shanghai Jiao Tong University School of MedicineShanghaiChina Department of neurology The Sixth People's Hospital Shanghai Jiaotong UniversityShanghaiChina Department of neurology and Institute of neurology The First Affiliated HospitalFujian Medical University/Fujian Key Laboratory of Molecular NeurologyFujian Medical UniversityFuzhouChina Department of neurology and Research Center of neurology The Second Affiliated Hospital/Key Laboratory of Medical Neurobiology of Zhejiang ProvinceZhejiang University School of MedicineHangzhouChina Department of neurology The First Affiliated HospitalSun Yat-sen UniversityGuangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases/National Key Clinical Department and Key Discipline of NeurologyGuangzhouChina Department of neurology China-Japan Friendship HospitalMovement Disorder and Neurogenetics Research CenterBeijingChina Department of neurology Shengjing Hospital of China Medical UniversityShenyangChina Department of neurology The First Affiliated Hospital of Xinjiang Medical UniversityUrumqiChina Department of neurology The First Affiliated Hospital of Anhui Medical UniversityCollaborative Innovation Center for Neuropsychiatric Disorders and Mental HealthAnhui Medical University/Anhui Province Key Laboratory of Cognition and Neuropsychiatry DisordersHefeiChina Department of neurology Xijing HospitalFourth Military Medical UniversityXi'anChina Department of neurology The First Affiliated Hospital of Soochow UniversitySuzhouChina Department of neurology The First Affiliated Hospital of Nanjing Medical UniversityNanjingChina Department of neurology The First Affiliated Hospital of Guangxi Medical UniversityNanningChina Department of neurology Peking University First HospitalBeijingChina Department of neurology Changzheng Hospitalthe PLA Naval Medical UniversityShanghaiChina Department of neurology and Department of Emergency Guizhou Provincial People's Hospital

Paroxysmal dyskinesias are a group of neurological diseases characterized by intermittent episodes of involuntary movements with different *** kinesigenic dyskinesia(PKD)is the most common type of paroxysmal dyskinesia and can be divided into primary and secondary types based on the ***,PKD is characterized by recurrent and transient attacks of involuntary movements precipitated by a sudden voluntary *** major cause of primary PKD is genetic abnormalities,and the inheritance pattern of PKD is mainly autosomal-dominant with incomplete *** proline-rich transmembrane protein 2(PRRT2)was the first identified causative gene of PKD,accounting for the majority of PKD cases *** increasing number of studies has revealed the clinical and genetic characteristics,as well as the underlying mechanisms of *** seeking the views of domestic experts,we propose an expert consensus regarding the diagnosis and treatment of PKD to help establish standardized clinical evaluation and therapies for *** this consensus,we review the clinical manifestations,etiology,clinical diagnostic criteria and therapeutic recommendations for PKD,and results of genetic analyses in PKD patients performed in domestic hospitals.

关键词： Paroxysmal kinesigenic dyskinesia Diagnosis and treatment Expert consensus China

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Exertional rhabdomyolysis and heat stroke: Beware of volatile anesthetic sedation

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World Journal of Critical Care Medicine 2017年第1期6卷 21-27页

作者： Karel Heytens Jan De Bleecker Walter Verbrugghe Jonathan Baets Luc Heytens Department of Anesthesiology University Hospital Antwerp Department of neurology AZ Sint-Lucas Department of neurology University Hospital Ghent Department of Intensive Care University Hospital Antwerp Department of neurology University Hospital Antwerp Laboratory of neurogenetics and Biobank Institute Born-Bunge University of Antwerp MH Research Unit University of Antwerp Departments of Anesthesiology and neurology University Hospital Antwerp

In view of the enormous popularity of mass sporting events such as half-marathons, the number of patients with exertional rhabdomyolysis or exercise-induced heat stroke admitted to intensive care units(ICUs) has increased over the last decade. Because these patients have been reported to be at risk for malignant hyperthermia during general anesthesia, the intensive care community should bear in mind that the same risk of life-threatening rhabdomyolysis is present when these patients are admitted to an ICU, and volatile anesthetic sedation is chosen as the sedative technique. As illustrated by the three case studies we elaborate upon, a thorough diagnostic work-up is needed to clarify the subsequent risk of strenuous exercise, and the anesthetic exposure to volatile agents in these patients and their families. Other contraindications for the use of volatile intensive care sedation consist of known malignant hyperthermia susceptibility, congenital myopathies, Duchenne muscular dystrophy, and intracranial hypertension.

关键词： Exertional rhabdomyolysis Heat stroke Intensive care sedation Inhalational anesthetics Malignant hyperthermia Congenital myopathies

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